Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02268:Ntrk1'

287021

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntrk1

Ensembl Gene

ENSMUSG00000028072

Gene Name

neurotrophic tyrosine kinase, receptor, type 1

Synonyms

Tkr, TrkA

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02268

Quality Score

Status

Chromosome

Chromosomal Location

87685551-87702469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87688838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 572 (H572Y)

Ref Sequence

ENSEMBL: ENSMUSP00000029712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029712] [ENSMUST00000029714] [ENSMUST00000090981]

AlphaFold

Q3UFB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000029712
AA Change: H572Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029712
Gene: ENSMUSG00000028072
AA Change: H572Y

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:LRR_8	91	150	8.9e-14	PFAM
Pfam:TPKR_C2	151	194	4.9e-15	PFAM
IG	202	285	3.2e-2	SMART
low complexity region	419	442	N/A	INTRINSIC
TyrKc	513	784	2.31e-142	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000029714

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090981

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations result in premature death due to severe sensory and sympathetic neuropathies. A conditional mutant mouse exhibits defects in mast cell and B cell physiology. Homozygotes for a point mutation are normal, but are subject to pharmacological control of signalling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,242 (GRCm39)	C16Y	probably benign	Het
Abca13	C	T	11: 9,240,626 (GRCm39)	L830F	probably benign	Het
Apcdd1	T	C	18: 63,083,259 (GRCm39)	V363A	probably damaging	Het
Atosb	T	A	4: 43,036,468 (GRCm39)	R88*	probably null	Het
Cachd1	A	G	4: 100,809,294 (GRCm39)	I260V	possibly damaging	Het
Cass4	T	A	2: 172,268,962 (GRCm39)	M350K	possibly damaging	Het
Ccnjl	A	G	11: 43,470,615 (GRCm39)	T128A	probably benign	Het
Cd6	C	T	19: 10,773,752 (GRCm39)	G361D	probably benign	Het
Cdh22	T	C	2: 164,965,639 (GRCm39)		probably benign	Het
Ces2h	T	A	8: 105,746,572 (GRCm39)	F475Y	probably benign	Het
Col15a1	A	T	4: 47,245,380 (GRCm39)	T44S	probably damaging	Het
Cplx3	C	T	9: 57,509,741 (GRCm39)	E86K	possibly damaging	Het
Crbn	A	G	6: 106,772,004 (GRCm39)	V100A	possibly damaging	Het
D430041D05Rik	C	A	2: 104,071,500 (GRCm39)	V1267L	possibly damaging	Het
Ecrg4	T	A	1: 43,770,111 (GRCm39)	C23S	probably damaging	Het
Elapor1	C	A	3: 108,375,113 (GRCm39)	A585S	probably benign	Het
F930017D23Rik	A	G	10: 43,480,405 (GRCm39)		noncoding transcript	Het
Fastkd3	A	G	13: 68,731,796 (GRCm39)	D39G	probably damaging	Het
Golgb1	T	A	16: 36,733,490 (GRCm39)	S912R	probably benign	Het
H2-T24	T	C	17: 36,328,264 (GRCm39)	Y73C	probably damaging	Het
Ifna9	A	T	4: 88,510,591 (GRCm39)	L11*	probably null	Het
Igsf10	A	T	3: 59,238,573 (GRCm39)	L536*	probably null	Het
Itprid1	A	T	6: 55,861,673 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,593,144 (GRCm39)	I215K	probably damaging	Het
Kdm4c	A	C	4: 74,291,953 (GRCm39)	I857L	possibly damaging	Het
Kptn	A	T	7: 15,857,786 (GRCm39)	H229L	probably benign	Het
Krt32	A	T	11: 99,978,967 (GRCm39)	M29K	probably benign	Het
Lama2	A	G	10: 26,877,112 (GRCm39)		probably benign	Het
Lpcat2b	A	C	5: 107,581,982 (GRCm39)	D437A	probably damaging	Het
Lrrc8c	T	C	5: 105,755,764 (GRCm39)	L513P	probably damaging	Het
Mon1a	T	C	9: 107,778,997 (GRCm39)	V407A	possibly damaging	Het
Myo5c	C	T	9: 75,153,519 (GRCm39)	P135L	probably damaging	Het
Myof	C	T	19: 37,942,877 (GRCm39)	V218M	possibly damaging	Het
Myof	T	A	19: 37,963,311 (GRCm39)	I429F	possibly damaging	Het
Nbas	A	G	12: 13,455,398 (GRCm39)	D1204G	possibly damaging	Het
Nckap1	G	A	2: 80,358,962 (GRCm39)	P560S	probably benign	Het
Notch2	G	A	3: 98,044,713 (GRCm39)	G1545D	probably damaging	Het
Or2t44	T	C	11: 58,677,551 (GRCm39)	F164L	probably benign	Het
Or7e177	T	C	9: 20,211,588 (GRCm39)	S31P	probably damaging	Het
Pate8	T	C	9: 36,493,166 (GRCm39)	Y52C	possibly damaging	Het
Pcdh15	A	T	10: 74,178,504 (GRCm39)	D587V	probably damaging	Het
Pik3cb	T	C	9: 98,928,609 (GRCm39)	Y882C	probably benign	Het
Plch1	T	A	3: 63,606,704 (GRCm39)	*1074C	probably null	Het
Plcxd1	T	C	5: 110,248,140 (GRCm39)		probably benign	Het
Ppp2r2d	A	G	7: 138,474,700 (GRCm39)	N27S	probably null	Het
Prkar2a	A	G	9: 108,624,152 (GRCm39)	M390V	probably benign	Het
Rab3gap1	A	G	1: 127,796,695 (GRCm39)	T18A	probably damaging	Het
Ranbp2	T	C	10: 58,329,475 (GRCm39)		probably benign	Het
Rasl12	T	C	9: 65,305,946 (GRCm39)	S34P	probably damaging	Het
Rpusd3	A	T	6: 113,395,818 (GRCm39)	L65Q	possibly damaging	Het
Rtf2	A	G	2: 172,310,639 (GRCm39)	K290R	probably damaging	Het
Rwdd4a	T	A	8: 48,003,731 (GRCm39)	L179*	probably null	Het
Scgb1b24	A	G	7: 33,444,388 (GRCm39)	E87G	possibly damaging	Het
Sgo2a	A	G	1: 58,056,881 (GRCm39)	I1022V	probably benign	Het
Smg1	A	C	7: 117,781,764 (GRCm39)	I1174M	probably benign	Het
Spata17	A	T	1: 186,872,595 (GRCm39)	M72K	probably damaging	Het
Synpo2	G	A	3: 122,910,632 (GRCm39)	P338S	probably damaging	Het
Tpi1	G	A	6: 124,791,087 (GRCm39)	T50I	probably benign	Het
Trpm1	A	G	7: 63,867,362 (GRCm39)	E354G	probably damaging	Het
Uba2	A	G	7: 33,842,161 (GRCm39)		probably null	Het
Wnk1	G	A	6: 119,914,334 (GRCm39)	R1823*	probably null	Het
Zfp248	A	C	6: 118,430,801 (GRCm39)		probably benign	Het
Zfp51	A	T	17: 21,683,681 (GRCm39)	K99*	probably null	Het

Other mutations in Ntrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ntrk1	APN	3	87,698,745 (GRCm39)	missense	possibly damaging	0.94
IGL00756:Ntrk1	APN	3	87,691,004 (GRCm39)	missense	probably benign	0.05
IGL01340:Ntrk1	APN	3	87,696,021 (GRCm39)	missense	possibly damaging	0.72
IGL02262:Ntrk1	APN	3	87,689,104 (GRCm39)	missense	probably damaging	1.00
IGL02290:Ntrk1	APN	3	87,689,078 (GRCm39)	missense	probably benign	0.11
IGL02435:Ntrk1	APN	3	87,696,039 (GRCm39)	missense	probably benign	0.01
IGL03007:Ntrk1	APN	3	87,690,050 (GRCm39)	missense	possibly damaging	0.56
PIT4802001:Ntrk1	UTSW	3	87,695,941 (GRCm39)	missense	probably damaging	0.98
R0015:Ntrk1	UTSW	3	87,699,057 (GRCm39)	intron	probably benign
R0140:Ntrk1	UTSW	3	87,685,875 (GRCm39)	missense	probably damaging	1.00
R0269:Ntrk1	UTSW	3	87,691,240 (GRCm39)	missense	possibly damaging	0.78
R0457:Ntrk1	UTSW	3	87,699,014 (GRCm39)	missense	probably benign
R0617:Ntrk1	UTSW	3	87,691,240 (GRCm39)	missense	possibly damaging	0.78
R1144:Ntrk1	UTSW	3	87,688,849 (GRCm39)	missense	probably damaging	1.00
R1152:Ntrk1	UTSW	3	87,685,900 (GRCm39)	missense	probably benign	0.33
R1439:Ntrk1	UTSW	3	87,696,918 (GRCm39)	splice site	probably null
R1588:Ntrk1	UTSW	3	87,687,384 (GRCm39)	nonsense	probably null
R1764:Ntrk1	UTSW	3	87,687,391 (GRCm39)	missense	probably damaging	0.99
R1766:Ntrk1	UTSW	3	87,685,825 (GRCm39)	missense	probably damaging	1.00
R1771:Ntrk1	UTSW	3	87,696,937 (GRCm39)	missense	probably benign
R2264:Ntrk1	UTSW	3	87,686,941 (GRCm39)	critical splice donor site	probably null
R2377:Ntrk1	UTSW	3	87,698,714 (GRCm39)	missense	possibly damaging	0.70
R4059:Ntrk1	UTSW	3	87,688,786 (GRCm39)	missense	probably damaging	1.00
R4950:Ntrk1	UTSW	3	87,696,918 (GRCm39)	splice site	probably null
R5107:Ntrk1	UTSW	3	87,702,280 (GRCm39)	missense	probably benign	0.01
R5805:Ntrk1	UTSW	3	87,687,479 (GRCm39)	missense	probably damaging	1.00
R6073:Ntrk1	UTSW	3	87,698,677 (GRCm39)	splice site	probably null
R6372:Ntrk1	UTSW	3	87,693,355 (GRCm39)	missense	probably benign
R6894:Ntrk1	UTSW	3	87,690,109 (GRCm39)	missense	probably damaging	1.00
R6972:Ntrk1	UTSW	3	87,691,288 (GRCm39)	missense	probably damaging	1.00
R6973:Ntrk1	UTSW	3	87,691,288 (GRCm39)	missense	probably damaging	1.00
R7309:Ntrk1	UTSW	3	87,702,384 (GRCm39)	missense	probably benign	0.00
R7693:Ntrk1	UTSW	3	87,695,733 (GRCm39)	missense	probably benign
R7836:Ntrk1	UTSW	3	87,687,041 (GRCm39)	nonsense	probably null
R8311:Ntrk1	UTSW	3	87,688,870 (GRCm39)	missense	probably damaging	1.00
R8458:Ntrk1	UTSW	3	87,698,976 (GRCm39)	critical splice donor site	probably null
R8726:Ntrk1	UTSW	3	87,693,396 (GRCm39)	missense	probably benign	0.10
R8791:Ntrk1	UTSW	3	87,686,990 (GRCm39)	missense	probably damaging	1.00
R8796:Ntrk1	UTSW	3	87,690,422 (GRCm39)	missense	probably benign	0.00
R8936:Ntrk1	UTSW	3	87,693,366 (GRCm39)	missense	possibly damaging	0.64
R9234:Ntrk1	UTSW	3	87,695,622 (GRCm39)	critical splice donor site	probably null
R9324:Ntrk1	UTSW	3	87,698,745 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16